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Article

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.

Clinical genetics - 1 May 2018

Tumienė B, Maver A, Writzl K, Hodžić A, Čuturilo G, Kuzmanić-Šamija R, Čulić V, Peterlin B

Abstract excerpt

Although genetic revolution of recent years has vastly expanded a list of genes implicated in epilepsies, complex architecture of epilepsy genetics is still largely unknown, consequently, universally accepted workflows for epilepsy genetic testing in a clinical practice are missing. We present a comprehensive NGS-based diagnostic approach addressing both the clinical and genetic heterogeneity of disorders...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29286531
DOI: 10.1111/cge.13203

Genes

SOX5
UBA5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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